|
1
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
|
8
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
9
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
10
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
11
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
14
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
15
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
16
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
17
|
(OMIM)
|
Calcification of the lenticular nuclei and ventricular dilatation on CT scan |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|